Mutagenetix > Incidental Mutation

Incidental Mutation 'R1628:Tarbp1'

172621

Institutional Source

Beutler Lab

Gene Symbol

Tarbp1

Ensembl Gene

ENSMUSG00000090290

Gene Name

TAR RNA binding protein 1

Synonyms

Gm17296

MMRRC Submission

039665-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1628 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126425329-126475065 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126430860 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1303 (F1303L)

Ref Sequence

ENSEMBL: ENSMUSP00000129815 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170518]

AlphaFold

E9Q368

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170518
AA Change: F1303L

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129815
Gene: ENSMUSG00000090290
AA Change: F1303L

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
low complexity region	47	57	N/A	INTRINSIC
low complexity region	77	97	N/A	INTRINSIC
low complexity region	112	127	N/A	INTRINSIC
low complexity region	195	207	N/A	INTRINSIC
SCOP:d1gw5a_	1059	1260	3e-3	SMART
Pfam:SpoU_methylase	1421	1564	2.2e-32	PFAM

Meta Mutation Damage Score

0.2710

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.7%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	T	17: 84,691,991	Q172*	probably null	Het
AI467606	G	A	7: 127,092,583	G110D	probably benign	Het
Arhgef15	A	C	11: 68,944,814	L805R	possibly damaging	Het
B3galnt1	G	A	3: 69,575,628	T100I	probably damaging	Het
Bod1l	T	A	5: 41,816,982	M2330L	probably benign	Het
Calcr	A	T	6: 3,700,251	H280Q	possibly damaging	Het
Camk1d	T	C	2: 5,311,037	D263G	probably damaging	Het
Cd48	T	A	1: 171,704,852	I233N	probably damaging	Het
Cyp3a25	A	T	5: 146,001,463	Y68*	probably null	Het
Dapk3	C	A	10: 81,191,809	T227K	possibly damaging	Het
Dnajc22	A	G	15: 99,100,936	M1V	probably null	Het
Etv5	C	T	16: 22,401,671		probably null	Het
Gabrr1	A	G	4: 33,152,432	Y124C	probably damaging	Het
Gba2	C	T	4: 43,570,118	R392Q	probably benign	Het
Gli3	C	G	13: 15,726,312	A1428G	probably benign	Het
Gls	G	A	1: 52,232,676	A106V	probably benign	Het
Gm1966	A	T	7: 106,603,269	L256*	probably null	Het
Gm21370	A	G	13: 120,026,878	V45A	possibly damaging	Het
Gm8765	T	C	13: 50,702,288	L654P	probably benign	Het
Gpr4	A	G	7: 19,223,199	T349A	probably benign	Het
Gpr6	C	T	10: 41,071,548	V13M	possibly damaging	Het
Hectd3	A	G	4: 116,997,392	H345R	probably damaging	Het
Igfl3	A	T	7: 18,180,307	K135N	probably benign	Het
Il23r	A	G	6: 67,423,609	L579S	probably damaging	Het
Itsn2	A	C	12: 4,629,652	M154L	probably benign	Het
Junb	T	A	8: 84,978,410	Q7L	possibly damaging	Het
Kif21b	T	A	1: 136,171,220	H1415Q	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klhdc10	T	G	6: 30,444,462	F79L	probably damaging	Het
Klk1b8	A	G	7: 43,954,141		probably null	Het
Lmbrd2	T	A	15: 9,182,506	N509K	probably damaging	Het
Mctp2	A	G	7: 72,211,589		probably null	Het
Myo3b	A	G	2: 70,286,962	N913S	probably benign	Het
N4bp2	G	A	5: 65,803,572		probably null	Het
Nt5c1a	A	G	4: 123,208,491	E70G	possibly damaging	Het
Olfr358	A	G	2: 37,004,726	V296A	probably damaging	Het
Papln	A	G	12: 83,784,406		probably benign	Het
Pcnx3	G	T	19: 5,686,065	S244R	probably damaging	Het
Pecam1	A	T	11: 106,682,960		probably null	Het
Plppr4	A	T	3: 117,328,272	L219Q	probably damaging	Het
Ppp2r5b	A	G	19: 6,230,905		probably null	Het
Ralgapb	A	G	2: 158,430,463	R146G	probably benign	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rfpl4b	T	G	10: 38,821,534	I24L	probably benign	Het
Serpinb1b	G	A	13: 33,093,654	C290Y	probably benign	Het
Slc25a17	A	G	15: 81,360,724	S3P	possibly damaging	Het
Slc4a11	A	C	2: 130,687,127		probably null	Het
Sptb	A	G	12: 76,583,848	Y2231H	probably damaging	Het
Srgap1	T	G	10: 121,870,339	M221L	probably benign	Het
Srgap3	A	G	6: 112,739,370	L599P	probably damaging	Het
Svep1	C	T	4: 58,107,561	V1177M	probably benign	Het
Tbxa2r	T	C	10: 81,334,507	S276P	possibly damaging	Het
Try10	A	T	6: 41,357,456	D194V	probably damaging	Het
Ttc37	A	G	13: 76,111,791	E70G	possibly damaging	Het
Ttc39c	T	C	18: 12,734,879		probably benign	Het
Ttc8	G	A	12: 98,982,521	V489M	probably benign	Het
Unc13b	G	T	4: 43,263,371	R1912L	probably damaging	Het
Unc45b	T	A	11: 82,929,380		probably null	Het
Usp17lb	T	C	7: 104,840,841	Y292C	probably damaging	Het
Usp34	A	G	11: 23,488,725	D3429G	probably damaging	Het
Usp42	A	G	5: 143,717,367	S500P	probably damaging	Het
Vmn2r14	T	C	5: 109,219,972	M385V	probably benign	Het
Vmn2r60	G	A	7: 42,136,406	W211*	probably null	Het
Vwf	A	T	6: 125,647,738		probably benign	Het
Wdfy4	A	T	14: 32,959,961	F3018I	probably damaging	Het
Wwox	A	G	8: 114,448,233	T102A	probably benign	Het
Zfp142	A	C	1: 74,571,888	L813R	possibly damaging	Het
Zfp407	G	A	18: 84,354,533	T1670M	probably damaging	Het
Zfp93	A	G	7: 24,274,857	E89G	probably benign	Het
Zwint	C	T	10: 72,656,295	Q18*	probably null	Het

Other mutations in Tarbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Tarbp1	APN	8	126459161	missense	probably damaging	1.00
IGL01419:Tarbp1	APN	8	126428155	missense	probably benign	0.03
IGL01475:Tarbp1	APN	8	126433962	missense	probably benign	0.03
IGL01688:Tarbp1	APN	8	126447551	missense	probably damaging	1.00
IGL01772:Tarbp1	APN	8	126447231	splice site	probably benign
IGL02402:Tarbp1	APN	8	126450828	splice site	probably benign
IGL02899:Tarbp1	APN	8	126453844	missense	probably damaging	0.96
IGL03006:Tarbp1	APN	8	126444142	missense	probably damaging	1.00
IGL03273:Tarbp1	APN	8	126453835	missense	probably damaging	1.00
PIT4280001:Tarbp1	UTSW	8	126430847	missense	probably damaging	0.96
R0048:Tarbp1	UTSW	8	126447530	missense	probably damaging	1.00
R0309:Tarbp1	UTSW	8	126438928	splice site	probably benign
R0383:Tarbp1	UTSW	8	126447484	missense	probably benign	0.00
R0455:Tarbp1	UTSW	8	126440873	missense	probably benign	0.00
R0738:Tarbp1	UTSW	8	126438801	critical splice donor site	probably null
R1345:Tarbp1	UTSW	8	126448330	missense	probably benign	0.03
R1370:Tarbp1	UTSW	8	126448330	missense	probably benign	0.03
R1617:Tarbp1	UTSW	8	126444268	missense	possibly damaging	0.47
R1702:Tarbp1	UTSW	8	126428218	missense	probably damaging	1.00
R1873:Tarbp1	UTSW	8	126447047	missense	probably damaging	1.00
R2018:Tarbp1	UTSW	8	126428114	missense	probably damaging	1.00
R2019:Tarbp1	UTSW	8	126428114	missense	probably damaging	1.00
R2060:Tarbp1	UTSW	8	126447594	splice site	probably null
R2877:Tarbp1	UTSW	8	126427832	missense	probably damaging	1.00
R3008:Tarbp1	UTSW	8	126447421	missense	possibly damaging	0.46
R3875:Tarbp1	UTSW	8	126438799	splice site	probably benign
R3905:Tarbp1	UTSW	8	126428152	missense	probably damaging	1.00
R3923:Tarbp1	UTSW	8	126440771	missense	probably benign	0.00
R4420:Tarbp1	UTSW	8	126447080	missense	possibly damaging	0.59
R4570:Tarbp1	UTSW	8	126452233	missense	probably benign	0.00
R4610:Tarbp1	UTSW	8	126474330	missense	probably damaging	1.00
R4649:Tarbp1	UTSW	8	126447195	missense	probably damaging	0.96
R4802:Tarbp1	UTSW	8	126474889	missense	possibly damaging	0.75
R4951:Tarbp1	UTSW	8	126447445	missense	possibly damaging	0.94
R4953:Tarbp1	UTSW	8	126447445	missense	possibly damaging	0.94
R5254:Tarbp1	UTSW	8	126467156	missense	probably damaging	0.96
R5255:Tarbp1	UTSW	8	126428970	missense	probably benign	0.16
R5638:Tarbp1	UTSW	8	126450686	missense	probably damaging	1.00
R5696:Tarbp1	UTSW	8	126447340	missense	probably damaging	0.98
R5707:Tarbp1	UTSW	8	126467144	missense	probably damaging	1.00
R5896:Tarbp1	UTSW	8	126452928	missense	probably benign	0.05
R6087:Tarbp1	UTSW	8	126428970	missense	probably benign	0.00
R6117:Tarbp1	UTSW	8	126427541	missense	probably benign	0.00
R6132:Tarbp1	UTSW	8	126434809	missense	probably benign	0.17
R6168:Tarbp1	UTSW	8	126448405	missense	possibly damaging	0.89
R6419:Tarbp1	UTSW	8	126459044	missense	possibly damaging	0.95
R6482:Tarbp1	UTSW	8	126450695	missense	probably benign	0.01
R6766:Tarbp1	UTSW	8	126447400	missense	probably benign	0.41
R6775:Tarbp1	UTSW	8	126436829	missense	probably benign	0.16
R6960:Tarbp1	UTSW	8	126429039	missense	possibly damaging	0.88
R7054:Tarbp1	UTSW	8	126474495	missense	possibly damaging	0.85
R7068:Tarbp1	UTSW	8	126427034	missense	probably damaging	1.00
R7454:Tarbp1	UTSW	8	126457677	missense	probably benign	0.19
R7519:Tarbp1	UTSW	8	126433900	missense	possibly damaging	0.87
R7760:Tarbp1	UTSW	8	126452807	missense	not run
R7837:Tarbp1	UTSW	8	126474561	missense	probably benign	0.00
R7882:Tarbp1	UTSW	8	126456493	missense	probably damaging	1.00
R7982:Tarbp1	UTSW	8	126444301	missense	probably damaging	1.00
R8166:Tarbp1	UTSW	8	126427128	missense	possibly damaging	0.79
R8517:Tarbp1	UTSW	8	126444195	missense	probably benign	0.29
R8838:Tarbp1	UTSW	8	126450830	splice site	probably benign
R8880:Tarbp1	UTSW	8	126471305	missense	probably damaging	1.00
R9061:Tarbp1	UTSW	8	126447141	missense	probably damaging	1.00
R9123:Tarbp1	UTSW	8	126447463	missense	possibly damaging	0.63
R9125:Tarbp1	UTSW	8	126447463	missense	possibly damaging	0.63
R9364:Tarbp1	UTSW	8	126450723	missense	probably benign	0.01
R9474:Tarbp1	UTSW	8	126429040	missense	probably benign	0.44
R9670:Tarbp1	UTSW	8	126456523	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TTCACAACGTCACAGGGTCAAGG -3'
(R):5'- AACGTGAGAACATTTCTATGTGGCAGT -3'

Sequencing Primer
(F):5'- CACAGGGTCAAGGGGACAG -3'
(R):5'- ccataaacctaaacttccccaaac -3'

Posted On

2014-04-24